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dbVar

Database of genomic structural variation

nsv6695315

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:4,700

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 173 SVs from 37 studies. See in: genome view

Submitted genomic191,129,201-191,133,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6695315	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	191,129,201	191,133,900
nsv6695315	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	191,993,927	191,998,626

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18447099	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18447099	Submitted genomic		NC_000002.12:g.191 129201_191133900de l	GRCh38 (hg38)		NC_000002.12	Chr2	191,129,201	191,133,900
nssv18447099	Remapped	Perfect	NC_000002.11:g.191 993927_191998626de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	191,993,927	191,998,626

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18447099	0.008	1966	248682

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